Description

The Coriell Cell Line Copy Number Variants track displays
copy-number variants (CNVs) in chromosomal aberration and inherited disorder
cell lines in the NIGMS Human Genetic Cell Repository. The Repository,
sponsored by the National Institute of General Medical Sciences, provides
scientists around the world with resources for cell and genetic research.
The samples include highly characterized cell lines and high quality DNA.
NIGMS Repository samples represent a variety of disease states, chromosomal
abnormalities, apparently healthy individuals and many distinct human
populations.

Approximately 1000 samples from the Chromosomal Aberrations and Heritable
Diseases collections of the NIGMS Repository were genotyped on the Affymetrix
Genome-Wide Human SNP 6.0 Array and analyzed for CNVs at the Coriell Institute
for Medical Research. Genotyping data for many of these samples is available
through dbGaP.

The genotyped samples represent a diverse set of copy-number variants. The
selection was weighted to over-sample commonly manifested types of aberrations.
Karyotyping was performed on all NIGMS Repository cell lines that were
submitted with reported chromosome abnormalities. When available, the ISCN
description of the sample, based on G-banding and FISH analysis, is included
in the phenotypic data. Karyotypes for these cells can be viewed in the
online Repository catalog.

Field definitions for an item description:

CN State: Copy Number of the imbalance. Note that all CNVs with
a copy number of 2 are colored neutral (black) and occur on the sex
chromosomes, where a CN State of 2 should not be interpreted
as normal, as it would be on an autosome.